These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 19953639)

  • 1. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
    Pangrazio A; Pusch M; Caldana E; Frattini A; Lanino E; Tamhankar PM; Phadke S; Lopez AG; Orchard P; Mihci E; Abinun M; Wright M; Vettenranta K; Bariae I; Melis D; Tezcan I; Baumann C; Locatelli F; Zecca M; Horwitz E; Mansour LS; Van Roij M; Vezzoni P; Villa A; Sobacchi C
    Hum Mutat; 2010 Jan; 31(1):E1071-80. PubMed ID: 19953639
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
    Frattini A; Pangrazio A; Susani L; Sobacchi C; Mirolo M; Abinun M; Andolina M; Flanagan A; Horwitz EM; Mihci E; Notarangelo LD; Ramenghi U; Teti A; Van Hove J; Vujic D; Young T; Albertini A; Orchard PJ; Vezzoni P; Villa A
    J Bone Miner Res; 2003 Oct; 18(10):1740-7. PubMed ID: 14584882
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
    Pang Q; Chi Y; Zhao Z; Xing X; Li M; Wang O; Jiang Y; Liao R; Sun Y; Dong J; Xia W
    Osteoporos Int; 2016 Mar; 27(3):1047-1055. PubMed ID: 26395888
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
    Bonapace G; Moricca MT; Talarico V; Graziano F; Pensabene L; Miniero R
    Ital J Pediatr; 2014 Nov; 40():90. PubMed ID: 25410126
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
    Zhang X; Wei Z; He J; Wang C; Zhang Z
    Postgrad Med; 2017 Nov; 129(8):934-942. PubMed ID: 28975865
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
    Yu T; Yu Y; Wang J; Yin L; Zhou Y; Ying D; Huang R; Chen H; Wu S; Shen Y; Fu Q; Chen F
    Mol Med Rep; 2014 Apr; 9(4):1191-6. PubMed ID: 24535484
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.
    Waguespack SG; Hui SL; Dimeglio LA; Econs MJ
    J Clin Endocrinol Metab; 2007 Mar; 92(3):771-8. PubMed ID: 17164308
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
    Cleiren E; Bénichou O; Van Hul E; Gram J; Bollerslev J; Singer FR; Beaverson K; Aledo A; Whyte MP; Yoneyama T; deVernejoul MC; Van Hul W
    Hum Mol Genet; 2001 Dec; 10(25):2861-7. PubMed ID: 11741829
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.
    Del Fattore A; Peruzzi B; Rucci N; Recchia I; Cappariello A; Longo M; Fortunati D; Ballanti P; Iacobini M; Luciani M; Devito R; Pinto R; Caniglia M; Lanino E; Messina C; Cesaro S; Letizia C; Bianchini G; Fryssira H; Grabowski P; Shaw N; Bishop N; Hughes D; Kapur RP; Datta HK; Taranta A; Fornari R; Migliaccio S; Teti A
    J Med Genet; 2006 Apr; 43(4):315-25. PubMed ID: 16118345
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.
    Zhang Y; Ji D; Li L; Yang S; Zhang H; Duan X
    Theranostics; 2019; 9(5):1387-1400. PubMed ID: 30867839
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
    Phadke SR; Fischer B; Gupta N; Ranganath P; Kabra M; Kornak U
    Indian J Med Res; 2010 Apr; 131():508-14. PubMed ID: 20424301
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
    Pangrazio A; Frattini A; Valli R; Maserati E; Susani L; Vezzoni P; Villa A; Al-Herz W; Sobacchi C
    Calcif Tissue Int; 2012 Oct; 91(4):250-4. PubMed ID: 22847576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
    Besbas N; Draaken M; Ludwig M; Deren O; Orhan D; Bilginer Y; Ozaltin F
    Eur J Pediatr; 2009 Dec; 168(12):1449-54. PubMed ID: 19238435
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
    Campos-Xavier AB; Saraiva JM; Ribeiro LM; Munnich A; Cormier-Daire V
    Hum Genet; 2003 Feb; 112(2):186-9. PubMed ID: 12522560
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
    Wang C; Zhang H; He JW; Gu JM; Hu WW; Hu YQ; Li M; Liu YJ; Fu WZ; Yue H; Ke YH; Zhang ZL
    J Bone Miner Metab; 2012 May; 30(3):338-48. PubMed ID: 21947783
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).
    Zheng H; Shao C; Zheng Y; He JW; Fu WZ; Wang C; Zhang ZL
    J Bone Miner Metab; 2016 Jul; 34(4):440-6. PubMed ID: 26056022
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.
    Hofstaetter JG; Atkins GJ; Kato H; Kogawa M; Blouin S; Misof BM; Roschger P; Evdokiou A; Yang D; Solomon LB; Findlay DM; Ito N
    Calcif Tissue Int; 2022 Oct; 111(4):430-444. PubMed ID: 35618777
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
    Zhang ZL; He JW; Zhang H; Hu WW; Fu WZ; Gu JM; Yu JB; Gao G; Hu YQ; Li M; Liu YJ
    J Bone Miner Metab; 2009; 27(4):444-51. PubMed ID: 19288050
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
    Barvencik F; Kurth I; Koehne T; Stauber T; Zustin J; Tsiakas K; Ludwig CF; Beil FT; Pestka JM; Hahn M; Santer R; Supanchart C; Kornak U; Del Fattore A; Jentsch TJ; Teti A; Schulz A; Schinke T; Amling M
    J Bone Miner Res; 2014 Apr; 29(4):982-91. PubMed ID: 24108692
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
    Li L; Lv SS; Wang C; Yue H; Zhang ZL
    Mol Med Rep; 2019 Jun; 19(6):5030-5038. PubMed ID: 30942407
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.